Variant report

Variant	nsv882837
Chromosome Location	chr5:128200502-128287228
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:128241322..128241829-chr5:128430596..128431143,2	MCF-7	breast:
2	chr20:32399700..32400201-chr5:128222435..128222935,2	Hela-S3	cervix:
3	chr5:128232489..128236420-chr5:128429140..128432073,3	MCF-7	breast:
4	chr5:128240839..128241886-chr5:128429456..128430395,4	MCF-7	breast:
5	chr5:128268677..128271311-chr5:128429524..128431668,2	MCF-7	breast:
6	chr5:128237270..128240135-chr5:128244832..128246396,2	MCF-7	breast:
7	chr5:128236339..128240186-chr5:128240250..128243674,3	MCF-7	breast:
8	chr5:128239764..128242379-chr5:128428800..128431828,4	MCF-7	breast:
9	chr5:128240683..128241856-chr5:129103237..129104348,9	K562	blood:
10	chr5:128241389..128241984-chr5:128470334..128471103,2	MCF-7	breast:
11	chr5:128240110..128242632-chr5:128429217..128432006,5	MCF-7	breast:
12	chr5:128240931..128241657-chr5:128461887..128462572,2	MCF-7	breast:
13	chr5:128240845..128241883-chr5:128470886..128471556,3	MCF-7	breast:
14	chr5:128241087..128241855-chr5:128471030..128471838,2	K562	blood:
15	chr5:128236339..128240186-chr5:128240250..128243674,3	MCF-7	breast:
16	chr5:128237270..128240135-chr5:128244832..128246396,2	MCF-7	breast:
17	chr5:128240890..128241833-chr5:128471115..128471772,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000066583	chromatin interactions

Extended variants
information (count: 2397 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2397 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10050439	chr5:128200502-128200503	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573608380	chr5:128200526-128200527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369377327	chr5:128200534-128200535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553117330	chr5:128200550-128200551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143332993	chr5:128200557-128200558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545277216	chr5:128200591-128200592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565286329	chr5:128200599-128200600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192991187	chr5:128200686-128200687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185257842	chr5:128200710-128200711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371603372	chr5:128200711-128200712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs963437	chr5:128200720-128200721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146722759	chr5:128200786-128200787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140343740	chr5:128200816-128200817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369709339	chr5:128200825-128200826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150369828	chr5:128200978-128200979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116355985	chr5:128200986-128200987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12521616	chr5:128201007-128201008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs76478773	chr5:128201105-128201106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537355359	chr5:128201184-128201185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551719144	chr5:128201191-128201192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564814984	chr5:128201265-128201266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12521650	chr5:128201299-128201300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs114161166	chr5:128201351-128201352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553282611	chr5:128201356-128201357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34169422	chr5:128201360-128201361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535951381	chr5:128201446-128201447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62393263	chr5:128201570-128201571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552679848	chr5:128201582-128201583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187311277	chr5:128201633-128201634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538889644	chr5:128201688-128201689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9327492	chr5:128201720-128201721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376631537	chr5:128201750-128201751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191709919	chr5:128201755-128201756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544908067	chr5:128201781-128201782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183881041	chr5:128201786-128201787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12514205	chr5:128201867-128201868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs9327493	chr5:128201893-128201894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs138104889	chr5:128201908-128201909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34825573	chr5:128201914-128201915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572532441	chr5:128201950-128201951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74552688	chr5:128201964-128201965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551560772	chr5:128202007-128202008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73784492	chr5:128202008-128202009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9327494	chr5:128202061-128202062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs72789228	chr5:128202083-128202084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149128816	chr5:128202096-128202097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188155685	chr5:128202112-128202113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9327495	chr5:128202113-128202114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529744274	chr5:128202192-128202193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546281951	chr5:128202203-128202204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128194200-128205600	Weak transcription	Fetal Heart	heart
2	chr5:128204000-128204200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:128204400-128205600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:128205000-128205200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr5:128205000-128205600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:128205000-128206800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:128205200-128207000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:128205200-128207200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:128205200-128208000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:128205200-128208000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:128205400-128206200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:128205400-128206800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:128205600-128205800	Enhancers	Rectal Smooth Muscle	rectum
14	chr5:128205600-128206000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:128205600-128206000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:128205600-128206000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr5:128205600-128206000	Enhancers	Aorta	Aorta
18	chr5:128205600-128206200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:128205600-128206200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:128205600-128206600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:128205600-128207000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:128205600-128208400	Enhancers	Fetal Stomach	stomach
23	chr5:128205600-128210400	Enhancers	Fetal Heart	heart
24	chr5:128205800-128206000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr5:128205800-128206200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:128205800-128206600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr5:128205800-128206800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:128205800-128207200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:128206000-128206800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:128206000-128207000	Enhancers	Colon Smooth Muscle	Colon
31	chr5:128206000-128207200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:128206200-128206800	Enhancers	Fetal Lung	lung
33	chr5:128206200-128212600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:128206400-128207400	Enhancers	Stomach Smooth Muscle	stomach
35	chr5:128206800-128207200	Enhancers	Rectal Smooth Muscle	rectum
36	chr5:128207000-128212200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:128207200-128212200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:128207200-128212400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:128208000-128211800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:128210400-128211800	Weak transcription	Fetal Heart	heart
41	chr5:128211800-128213400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr5:128211800-128213400	Enhancers	Fetal Heart	heart
43	chr5:128211800-128213800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:128212200-128213000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:128212200-128213400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:128212200-128213600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:128212400-128212600	Enhancers	Esophagus	oesophagus
48	chr5:128212400-128212800	Enhancers	H9 Cell Line	embryonic stem cell
49	chr5:128212400-128213000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:128212400-128213200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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